Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers

2006/01/01 by Fulvio Cruciani, Roberta La Fratta, Antonio Torroni +2 · 5 citations
Biochemistry, Genetics and Molecular Biology · #Forensic and Genetic Research #Genetic diversity and population structure #Genetic Associations and Epidemiology #Haplogroup #Biology #Microsatellite #Haplotype #Genetics #Phylogenetic tree #Allele #Identification (biology) #Evolutionary biology #Indel #Y chromosome #Gene #Single-nucleotide polymorphism #Genotype

paper · doi:10.1002/humu.9445

openalex publication_date 2006/01/01 · openalex created_date 2025/10/10 · openalex updated_date 2026/06/14

Abstract

The human Y chromosome haplogroup E-M78 (E3b1a) occurs commonly and is distributed in northern and eastern Africa, western Asia, and all of Europe. Previously, only two rarely observed internal biallelic markers (UEPs) were known within the E-M78 clade. Here we report the identification of six novel UEPs that significantly refine the phylogeny of this haplogroup. Then, we evaluate the correspondence between the newly defined sub-haplogroups and the E-M78 haplotype clusters previously identified by an 11-microsatellite loci-based network encompassing 232 chromosomes (Cruciani et al., 2004). We observed considerable correspondence between the trees generated by the two types of markers, but also noted important discrepancies between microsatellite and UEP findings. Overall, this analysis reveals that the currently visible terminal branches of the Y tree still contain a large amount of information, in terms of undiscovered biallelic markers, and that caution is needed when using the microsatellite alleles as surrogates of unique event polymorphisms.

Citations

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• 著一字而尽得风流－《呐感》、《彷徨》之开头艺术杂谈
• Holmespun: An Intimate Portrait of an Amish and Mennonite Community, Conceptual Art and the Politics of Publicity
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• The Molecular Dissection of mtDNA Haplogroup H Confirms That the Franco-Cantabrian Glacial Refuge Was a Major Source for the European Gene Pool
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• Differential Y‐chromosome Anatolian Influences on the Greek and Cretan Neolithic
• Haplogroup E-M215 [wikipedia]